Canonical Allele Identifier: CA1192534975
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975288G= , CM000663.2:g.119975288G= GRCh38
NC_000001.10:g.120517911G= , CM000663.1:g.120517911G= GRCh37
NC_000001.9:g.120319434G= NCBI36
NG_008163.1:g.99366C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5544C= MANE Select ENSP00000256646.2:n.875-5544C=
ENST00000640021.1:c.94+1062C= ENSP00000492223.1:n.94+1062C=
ENST00000256646.6:c.875-5544C= ENSP00000256646.2:n.875-5544C=
ENST00000479412.2:n.1013-5544C=
ENST00000579475.7:c.758-5544C= ENSP00000477065.2:n.758-5544C=
NM_001200001.1:c.875-5544C= NP_001186930.1:n.875-5544C=
NM_024408.3:c.875-5544C= NP_077719.2:n.875-5544C=
XM_005270901.2:c.758-5544C= XP_005270958.1:n.758-5544C=
XM_011541519.1:c.863-5544C= XP_011539821.1:n.863-5544C=
XM_011541520.1:c.758-5544C= XP_011539822.1:n.758-5544C=
NM_024408.4:c.875-5544C= MANE Select NP_077719.2:n.875-5544C=
NM_001200001.2:c.875-5544C= NP_001186930.1:n.875-5544C=